Download PDF
Thromb Haemost 2007; 98(01): 251-254
DOI: 10.1160/TH06-11-0672
Case Report
Schattauer GmbH

Type 2B von Willebrand disease in seven individuals from three different families: Phenotypic and genotypic characterization

Tímea Szántó
1   Laboratory for Thrombosis Research, IRC, KU Leuven Campus Kortrijk, Kortrijk, Belgium
2   Clinical Research Center and
,
Ágota Schlammadinger
3   2nd Department of Medicine, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary
,
Isabelle Salles
1   Laboratory for Thrombosis Research, IRC, KU Leuven Campus Kortrijk, Kortrijk, Belgium
,
Inge Pareyn
1   Laboratory for Thrombosis Research, IRC, KU Leuven Campus Kortrijk, Kortrijk, Belgium
,
Stephan Vauterin
1   Laboratory for Thrombosis Research, IRC, KU Leuven Campus Kortrijk, Kortrijk, Belgium
,
Jolán Hársfalvi
1   Laboratory for Thrombosis Research, IRC, KU Leuven Campus Kortrijk, Kortrijk, Belgium
,
Anne-Marie Vanden Bulcke
4   AZ Groeninge, Campus Maria’s Voorzienigheid, Kortrijk, Belgium
,
Hans Deckmyn
1   Laboratory for Thrombosis Research, IRC, KU Leuven Campus Kortrijk, Kortrijk, Belgium
,
Karen Vanhoorelbeke
1   Laboratory for Thrombosis Research, IRC, KU Leuven Campus Kortrijk, Kortrijk, Belgium
› Author Affiliations
Further Information

Publication History

Received 28 November 2007

Accepted after resubmission 19 April 2007

Publication Date:
29 November 2017 (online)

Also available at
    Permissions and Reprints

 

 

  • References

  • 1 Ruggeri ZM, Pareti FI, Mannucci PM. et al. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand’s disease. N Engl J Med 1980; 302: 1047-1051.
    CrossrefPubMedGoogle Scholar
  • 2 De Marco L, Mazzuccato M, Grazia DB. et al. Type IIB von Willebrand factor with normal sialic acid content induces platelet aggregation in the absence of ristocetin. Role of platelet activation, fibrinogen, and two distinct membrane receptors. J Clin Invest 1987; 80: 475-482.
    CrossrefPubMedGoogle Scholar
  • 3 Ruggeri ZM, Lombardi R, Gatti L. et al. Type IIB von Willebrand’s disease: differential clearance of endogenous versus transfused large multimer von Wille-brand factor. Blood 1982; 60: 1453-1456.
    PubMedGoogle Scholar
  • 4 Ruggeri ZM, Zimmerman TS. Variant von Willebrand’s disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Invest 1980; 65: 1318-1325.
    CrossrefPubMedGoogle Scholar
  • 5 Sadler JE. A revised classification of von Wille-brand disease. For the Subcommittee on von Wille-brand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1994; 71: 520-525.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 6 Keeney S, Cumming AM. Themolecular biology of von Willebrand disease. Clin Lab Haematol 2001; 23: 209-230.
    CrossrefPubMedGoogle Scholar
  • 7 Castaman G, Federici AB, Rodeghiero F. et al. Von Willebrand’s disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment. Haematologica 2003; 88: 94-108.
    PubMedGoogle Scholar
  • 8 Favaloro EJ. Von Willebrand factor collagen-binding(activity) assay in the diagnosis of von Willebrand disease: a 15-year journey. Semin Thromb Hemost 2002; 28: 191-202.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 9 Saba HI, Saba SR, Dent J. et al. Type IIB Tampa: a variant of von Willebrand disease with chronic thrombocytopenia, circulating platelet aggregates, and spontaneous platelet aggregation. Blood 1985; 66: 282-286.
    PubMedGoogle Scholar
  • 10 Ginsburg D, Sadler JE. Von Willebrand disease: a database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1993; 69: 177-184.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 11 Emsley J, Cruz M, Handin R. et al. Crystal structure of the von Willebrand Factor A1 domain and implications for the binding of platelet glycoprotein Ib. J Biol Chem 1998; 273: 10396-10401.
    CrossrefPubMedGoogle Scholar
  • 12 Nakayama T, Matsushita T, Dong Z. et al. Identification of the regulatory elements of the human von Willebrand factor for binding to platelet GPIb. Importance of structural integrity of the regions flanked by the CYS1272-CYS1458 disulfide bond. J Biol Chem 2002; 277: 22063-22072.
    CrossrefPubMedGoogle Scholar
  • 13 Schlammadinger A, Kerenyi A, Muszbek L. et al. Comparison of the O’Brien filtertestand the PFA-100 platelet analyzer in the laboratory diagnosis of von Willebrand’s disease. Thromb Haemost 2000; 84: 88-92.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 14 Vanhoorelbeke K, Cauwenberghs N, Vauterin S. et al. A reliable and reproducible ELISA method to measure ristocetin cofactor activity of von Willebrand factor. Thromb Haemost 2000; 83: 107-113.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 15 Vanhoorelbeke K, Cauwenberghs N, Vandecasteele G. et al. A reliable von Willebrand factor: ristocetinco-factor enzyme-linked immunosorbent assay to differentiate between type 1 and type 2 von Willebrand disease. Semin Thromb Haemost 2002; 28: 161-166.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 16 Ruggeri ZM, Zimmerman TS. The complex multimeric composition of factor VIII/von Willebrand factor. Blood 1981; 57: 1140-1143.
    PubMedGoogle Scholar
  • 17 Randi AM, Rabinowitz I, Mancuso DJ. et al. Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ibbinding sequences. J Clin Invest 1991; 87: 1220-1226.
    CrossrefPubMedGoogle Scholar
  • 18 Ribba AS, Loisel I, Lavergne JM. et al. Ser968Thr mutation within the A3 domain of von Willebrand factor(VWF) in tworelated patients leads to a defective binding of VWF to collagen. Thromb Haemost 2001; 86: 848-854.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 19 Cooney KA, Nichols WC, Bruck ME. et al. The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. J Clin Invest 1991; 87: 1227-1233.
    CrossrefPubMedGoogle Scholar
  • 20 Lillicrap D, Murray EW, Benford K. et al. Recurring mutations at CpG dinucleotides in theregion of the von Willebrand factor gene encoding the glycoprotein Ib binding domain, in patients with type IIBv on Willebrand’s disease. Br J Haematol 1991; 79: 612-617.
    CrossrefPubMedGoogle Scholar
  • 21 Donner M, Krist of fersson AC Lenk H. et al. Type IIB von Willebrand’s disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden. Br J Haematol 1992; 82: 58-65.
    CrossrefPubMedGoogle Scholar
  • 22 Facey DA, Favaloro EJ, Maxwell E. et al. Type 2B von Willebrand’s disease in thirteen individuals from five unrelated Australian families: phenotype and genotype correlations. Am J Hematol 2000; 63: 197-199.
    CrossrefPubMedGoogle Scholar
  • 23 Mathew P, Greist A, Maahs JA. et al. Type 2B VWD: the varied clinical manifestations in two kindreds. Haemophilia 2003; 9: 137-144.
    CrossrefPubMedGoogle Scholar
  • 24 Hilbert L, Gaucher C, Abgrall JF. et al. Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu. Br J Haematol 1998; 103: 877-884.
    CrossrefPubMedGoogle Scholar
  • 25 Donner M, Holmberg L. Krist of fersson AC, et al. An HphI-polymorphism in exon 28 of the von Wille-brand factor gene, and its frequency among patients with various forms of von Willebrand’s disease. Br J Haematol 1991; 78: 403-407.
    CrossrefPubMedGoogle Scholar
  • 26 Fressinaud E, Veyradier A, Truchaud F. et al. Screening for von Willebrand disease with a new analyzer using high shear stress: a study of 60 cases. Blood 1998; 91: 1325-1331.
    PubMedGoogle Scholar
  • 27 Levy G, Ginsburg D. Getting at the variable expressivity of von Willebrand disease. Thromb Haemost 2001; 86: 144-148.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 28 Kunicki TJ, Baronciani L, Canciani MT. et al. An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees. J Thromb Haemost 2006; 4: 137-147.
    PubMedGoogle Scholar
  • 29 Kunicki TJ, Federici AB, Salomon DR. et al. An association of candidate gene haplotypes and bleeding severity in von Willebrand disease(VWD) type 1pedi-grees. Blood 2004; 104: 2359-2367.
    CrossrefPubMedGoogle Scholar
  • 30 Bauduer F, Ducout L. Is the assessment of von Willebrand disease prevalence an achievable challenge? The example of the French Basque Country where blood group O and factor XI deficiency are highly prevalent. J Thromb Haemost 2004; 2: 1724-1726.
    CrossrefPubMedGoogle Scholar